Variant report

Variant	nsv970821
Chromosome Location	chr7:39854417-39856931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:39855994-39856041	Pancreas_OC	pancreas:	n/a	n/a
2	GATA2	chr7:39856063-39856582	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr7:39855956-39856620	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr7:39855973-39856400	T-47D	breast:	n/a	n/a
5	GATA3	chr7:39855827-39856654	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:39856003-39856553	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr7:39856138-39856726	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr7:39856461-39856489	Hela-S3	cervix:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39849762..39852736-chr7:39853685..39855413,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK13-6	chr7:39856148-39856291	NONHSAT120234
2	lnc-CDK13-6	chr7:39856418-39856575	NONHSAT120234

No data

Variant related genes	Relation type
ENSG00000237251	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60571161	chr7:39854437-39854438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545069589	chr7:39854488-39854489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551423875	chr7:39854492-39854493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368646020	chr7:39854521-39854522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78992317	chr7:39854526-39854527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148586150	chr7:39854573-39854574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550881047	chr7:39854588-39854589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560722533	chr7:39854592-39854593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1016304	chr7:39854599-39854600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546251282	chr7:39854613-39854614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566235164	chr7:39854627-39854628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538763272	chr7:39854649-39854650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568066100	chr7:39854684-39854685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141922288	chr7:39854718-39854719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367766993	chr7:39854723-39854724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568860943	chr7:39854750-39854751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376100375	chr7:39854755-39854756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537316426	chr7:39854773-39854774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62453012	chr7:39854834-39854835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557701632	chr7:39854890-39854891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541432507	chr7:39854891-39854892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377758772	chr7:39854958-39854959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146127102	chr7:39855011-39855012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556897283	chr7:39855072-39855073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1016303	chr7:39855140-39855141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs57983731	chr7:39855160-39855161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187845263	chr7:39855186-39855187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575617986	chr7:39855195-39855196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375285795	chr7:39855209-39855210	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs544146827	chr7:39855229-39855230	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs192953722	chr7:39855235-39855236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs529794215	chr7:39855239-39855240	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs184119677	chr7:39855388-39855389	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs559947540	chr7:39855393-39855394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs139849282	chr7:39855400-39855401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs532083377	chr7:39855404-39855405	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs189497578	chr7:39855433-39855434	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs559823594	chr7:39855487-39855488	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs568723604	chr7:39855521-39855522	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs34763382	chr7:39855532-39855533	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73687351	chr7:39855559-39855560	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200986702	chr7:39855578-39855579	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs73687366	chr7:39855580-39855581	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181903836	chr7:39855581-39855582	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs202061239	chr7:39855582-39855583	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs553589591	chr7:39855613-39855614	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs73385762	chr7:39855615-39855616	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538730590	chr7:39855725-39855726	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs371870178	chr7:39855737-39855738	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs188989145	chr7:39855738-39855739	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39851000-39855200	Weak transcription	Left Ventricle	heart
2	chr7:39851200-39855400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:39851400-39854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:39853200-39854600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:39854600-39859200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:39854800-39855600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:39855000-39856800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:39855200-39856000	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr7:39855400-39855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:39855400-39855600	Enhancers	Left Ventricle	heart
11	chr7:39855400-39856000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:39855600-39856200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:39855600-39856200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:39855600-39856600	Bivalent Enhancer	Fetal Lung	lung
15	chr7:39856200-39856400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:39856200-39856400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:39856400-39856600	Bivalent Enhancer	HUVEC	blood vessel

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